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Open AccessCorrection to: PKU dietary handbook to accompany PKU guidelines
An amendment to this paper has been published and can be accessed via the original article.
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Open AccessPKU dietary handbook to accompany PKU guidelines
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine.
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An update on serine deficiency disorders
Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomo...
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Identification of Mutations and Evaluation of Cardiomyopathy in Turkish Patients with Primary Carnitine Deficiency
Primary systemic carnitine deficiency (SCD) is an autosomal recessive disorder caused by defective cellular carnitine transport. Patients usually present with predominant metabolic or cardiac manifestations. S...
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A Zinc Sulphate-Resistant Acrodermatitis Enteropathica Patient with a Novel Mutation in SLC39A4 Gene
Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of zinc deficiency due to an abnormal intestinal zinc transporter. It is characterized by the triad of acral dermatitis, alopecia, and d...
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Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patie...
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Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria
d-2-hydroxyglutaric aciduria (D-2-HGA; OMIM 600721) is a rare autosomal recessive neurometabolic disorder with a wide clinical spectrum. The severe phenotype is homogeneous and is characterized b...
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Does maternal knowledge impact blood phenylalanine concentration in Turkish children with phenylketonuria?
The aim of this study was to compare the level of maternal knowledge and the blood phenylalanine (Phe) control in phenylketonuria (PKU; OMIM 261600). The study was conducted on 144 children (81 boys, 63 girls)...
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Maple syrup urine disease: Mutation analysis in Turkish patients
Maple syrup urine disease (MSUD), the most frequently occurring organic acidaemia in Turkey, is caused by a deficiency of the activity of branched-chain keto acid dehydrogenase enzyme (BCKAD) complex. Mutation...
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Mutation analysis in Turkish patients with hereditary fructose intolerance
Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European ...
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Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency
Venous and arterial thromboembolism can occur in patients with homocystinuria. Resistance to activated protein C, which is caused by a single point mutation in the gene for factor V, renders an individual at r...
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Neuroleptic malignant syndrome in a patient with citrullinaemia
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Molecular basis of mild hyperphenylalaninaemia in Turkey
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Genotype–phenotype correlation in dihydropteridine reductase deficiency
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Novel mutations cause biotinidase deficiency in Turkish children
Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:del7ins3 mutation is common in clinically ...
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Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis
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The influence of socioeconomic and cultural factors on compliance with dietary treatment, and growth and development in PKU children
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Biotinidase deficiency with neurological features resembling multiple sclerosis
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Congenital rickets
